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RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
Features include always present findings: Thickened calvaria, Short femoral neck, Weak and brittle bones (osteoporosis), and Mild bone density loss (osteopenia) and others. 24 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Short femoral neck, Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia) |
TMEM67 function has not been fully characterized.
RHYNS syndrome is associated with mutations in the TMEM67 gene on chromosome 8.
Genetic testing for TMEM67 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for RHYNS syndrome has been reported in the published literature.
Phenotype severity distribution: 14 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for RHYNS syndrome.
44 publications have been identified in PubMed for RHYNS syndrome. Research spans Case Report / Case Series (66%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 29 | 66% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about RHYNS syndrome
Growth and development |
3 |
Short stature, Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulation test |
Kidneys and urinary system | 3 | Reduced kidney function (renal insufficiency), Chronic kidney disease, Nephronophthisis |
Hormones | 3 | Reduced circulating growth hormone concentration, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test |
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment |
Eyes | 1 | Ptosis |
8 |
18% |
Laboratory research | 5 | 11% |
Testing and diagnosis research | 1 | 2% |
Disease patterns and progression | 1 | 2% |
Schumaier NP (2026). [PMID: 39531587](https://pubmed.ncbi.nlm.nih.gov/39531587/). *Retinal cases & brief reports*. [Case Report / Case Series]
Oral M (2026). [PMID: 41457518](https://pubmed.ncbi.nlm.nih.gov/41457518/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Kar A (2026). [PMID: 41932709](https://pubmed.ncbi.nlm.nih.gov/41932709/). *BMJ case reports*. [Case Report / Case Series]
Mateti N (2026). [PMID: 41161857](https://pubmed.ncbi.nlm.nih.gov/41161857/). *Journal of cerebrovascular and endovascular neurosurgery*. [Case Report / Case Series]
Nakanishi H (2026). [PMID: 41116023](https://pubmed.ncbi.nlm.nih.gov/41116023/). *Pediatric research*. [Review / Meta-Analysis]
Schroeder RL (2026). [PMID: 41064951](https://pubmed.ncbi.nlm.nih.gov/41064951/). *Veterinary pathology*. [Basic Science / Preclinical]
Sánchez CMD (2026). [PMID: 41052910](https://pubmed.ncbi.nlm.nih.gov/41052910/). *Clinical genetics*. [Case Report / Case Series]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
Arcot Sadagopan K (2025). [PMID: 40083070](https://pubmed.ncbi.nlm.nih.gov/40083070/). *Ophthalmic genetics*. [Case Report / Case Series]
Carmant LS (2025). [PMID: 40524352](https://pubmed.ncbi.nlm.nih.gov/40524352/). *Prenatal diagnosis*. [Case Report / Case Series]